CYP1A1 and CYP2E1 polymorphism frequencies in a large Brazilian population

Genetics and Molecular Biology

Renata Dos Santos Coura²  Christiane De Fátima Silva Marques¹  Rosalina J. Koifman¹  Sergio Koifman¹  Pedro Hernan Cabello¹  Ana Hatagima¹ 

[1] ,Universidade Federal do Rio Grande do Sul Programa de Pós-graduação em Genética e Biologia Molecular Porto Alegre RS ,Brasil

关键词: cytochromes P450;    CYP1A1;    CYP2E1;    Brazil;   

DOI  :  10.1590/S1415-47572007000100001

来源: SciELO

【 摘 要 】

The enzymes encoded by the polymorphic genes CYP1A1 and CYP2E1 play an important role in the activation and inactivation of xenobiotics. These enzymes have been associated with xenobiotic-induced diseases, such as cancer, therapeutic failure and adverse effects of drugs. The aim of the present study was to determine the allelic and genotypic frequencies of these polymorphisms in a large, ethnically mixed Brazilian population sample from Rio de Janeiro. Polymorphisms CYP1A1 and CYP2E1 were determined in 870 unrelated individuals by PCR-RFLP analysis in peripheral blood DNA. The observed allelic frequencies were 0.90 for CYP1A1*1A and 0.95 for CYP2E1*1A, in the total sample. The allelic frequency of CYP1A1*2C in "pardos" (0.13) and Brazilian whites (0.11) was higher than in Caucasians (0.05), which may be a result of the Amerindian genetic component, that presents the highest frequency of this allele observed up to now. The genotype distributions for both polymorphisms were in Hardy-Weinberg equilibrium and were statistically different between males and females, and among ethnic groups.

【 授权许可】

CC BY   
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